Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests

[1]  R. Tamang,et al.  Reconstructing the population history of the largest tribe of India: the Dravidian speaking Gond , 2017, European Journal of Human Genetics.

[2]  Sharyn A. Lincoln,et al.  Prognostic dilemmas and genetic counseling for prenatally detected fragile X gene expansions , 2017, Prenatal diagnosis.

[3]  R. Kothary,et al.  Opening the window: The case for carrier and perinatal screening for spinal muscular atrophy , 2016, Neuromuscular Disorders.

[4]  W. Grody Where to Draw the Boundaries for Prenatal Carrier Screening. , 2016, JAMA.

[5]  D. Amor,et al.  “I'm Healthy, It's Not Going To Be Me”: Exploring experiences of carriers identified through a population reproductive genetic carrier screening panel in Australia , 2016, American journal of medical genetics. Part A.

[6]  S. Metcalfe,et al.  “It gives them more options”: preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare , 2016, Journal of Community Genetics.

[7]  Mary E Norton,et al.  Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Feta , 2015, Obstetrics and gynecology.

[8]  E. Haan,et al.  Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis , 2014, Twin Research and Human Genetics.

[9]  F. Tassone,et al.  AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission , 2014, Journal of Neurodevelopmental Disorders.

[10]  M. Delatycki,et al.  ‘No thanks’—reasons why pregnant women declined an offer of cystic fibrosis carrier screening , 2014, Journal of Community Genetics.

[11]  D. Amor,et al.  Population‐based genetic carrier screening for cystic fibrosis in Victoria , 2014, The Medical journal of Australia.

[12]  Wayne W. Grody,et al.  ACMG position statement on prenatal/preconception expanded carrier screening , 2013, Genetics in Medicine.

[13]  S. Metcalfe,et al.  “It's about having the choice”: Stakeholder perceptions of population‐based genetic carrier screening for fragile X syndrome , 2013, American journal of medical genetics. Part A.

[14]  J. Greenberg,et al.  Prevalence of CGG expansions of the FMR1 gene in a US population‐based sample , 2012, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[15]  T. Prior,et al.  Technical standards and guidelines for spinal muscular atrophy testing , 2011, Genetics in Medicine.

[16]  M. Delatycki,et al.  Population‐based carrier screening for cystic fibrosis in Victoria: The first three years experience , 2009, The Australian & New Zealand journal of obstetrics & gynaecology.

[17]  P. Hagerman,et al.  Expansion of an FMR1 grey-zone allele to a full mutation in two generations. , 2009, The Journal of molecular diagnostics : JMD.

[18]  M. Khaniani,et al.  An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1) , 2008, Molecular Cytogenetics.

[19]  B. Chong,et al.  Population screening and cascade testing for carriers of SMA , 2007, European Journal of Human Genetics.

[20]  W. Brown,et al.  Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. , 2003, American journal of human genetics.

[21]  K. Klinger,et al.  Laboratory standards and guidelines for population-based cystic fibrosis carrier screening , 2001, Genetics in Medicine.

[22]  D. Schlessinger,et al.  Fragile X genotype characterized by an unstable region of DNA , 1991, Science.

[23]  E. Hook,et al.  Chromosomal abnormality rates at amniocentesis and in live-born infants. , 1983, JAMA.

[24]  Committee Opinion No. 690 Summary: Carrier Screening in the Age of Genomic Medicine. , 2017, Obstetrics and gynecology.

[25]  P. Hagerman,et al.  A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations. , 2008, The Journal of molecular diagnostics : JMD.

[26]  S. Gallati The Application of Clinical Genetics Dovepress Disease-modifying Genes and Monogenic Disorders: Experience in Cystic Fibrosis , 2022 .